research Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
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research Col4a2-eGFP Mouse Model Reveals the Molecular and Functional Dynamics of Basement Membrane Remodelling in Hair Follicle Morphogenesis
Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
research A Window into Mammalian Basement Membrane Development: Insights from the mTurq2-Col4a1 Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Becker’s Nevus in a Male: A Case Report
A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research A Transient Dermal Niche and Dual Epidermal Programs Underlie Sweat Gland Development
Sweat gland development involves two unique skin cell programs and a temporary skin environment.
research Data from Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The treatment was ineffective in humans.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in Mice
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research MOF-Mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions by Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Clinical Case of a Patient with Progressive Supranuclear Palsy – From Symptom to Diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Follicle-Innervating Aδ-Low Threshold Mechanoreceptors Organize Through a Population-Dependent Mechanism
Mouse touch-sensitive nerve cells adjust their connections based on competition with other similar cells.
research Primary Cilia Regulate Meibomian Glands Development and Dimensions Without Impairing Lipid Composition of the Meibum
Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
research Dental Management in a 7-Year-Old Child with Ichthyosis Vulgaris: A Rare Case Report
Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
research Patched-Associated Tumors: Modifier Genes and Pathogenesis
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research A Synoptic Overview on Autoimmune Disorders and Its Management
Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
research A Synoptic Overview on Autoimmune Disorders and Its Management
Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
research Dysregulation of Grainyhead-Like 3 Expression Causes Widespread Developmental Defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.